Publicaciones en colaboración con investigadores/as de University of Michigan–Ann Arbor (5)

2006

  1. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

    Human Molecular Genetics, Vol. 15, Núm. 11, pp. 1847-1857

  2. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

    Nature Genetics, Vol. 38, Núm. 6, pp. 674-681

2005

  1. Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouse

    Investigative Ophthalmology and Visual Science, Vol. 46, Núm. 6, pp. 2156-2167

  2. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

    Nature Genetics, Vol. 37, Núm. 3, pp. 282-288

  3. RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

    Journal of Biological Chemistry, Vol. 280, Núm. 39, pp. 33580-33587